Singapore—A family is experiencing a dramatically different outcome with their second child diagnosed with spinal muscular atrophy (SMA), a genetic condition that robs children of physical strength. Early access to treatment is proving to be a life-altering factor, offering a glimmer of hope where there was once only heartbreak.
A Race Against Time: New Treatments Offer Hope for SMA
For families facing spinal muscular atrophy, timely intervention with groundbreaking therapies can mean the difference between a life severely limited by the disease and one with significantly improved mobility and function.
- Spinal muscular atrophy (SMA) is a genetic disease affecting muscle strength and movement.
- New treatments, like risdiplam and gene therapy, are available to slow or halt disease progression.
- Early diagnosis and treatment are crucial for maximizing benefits.
- The cost of treatment can be substantial, creating financial burdens for families.
“Faziq is also not as ‘floppy’ as Faris was – he can sit up straighter, and though he sees the doctor regularly, we all get to go out more as a family,” said Norhaziqah, the mother of both boys. Unlike her late son, Faris, Faziq’s condition is more stable; he can move around on the floor, raise his arms, and become animated when excited.
A: Early access to medication and, potentially, gene therapy for Faziq, which were unavailable or unaffordable for Faris, is significantly improving his quality of life and physical development.
The turning point, Norhaziqah explained, was the availability of treatment. “With Faris, there was no medication that was available and that we could afford – so we had to make do by only managing his pain and symptoms.”
Faziq began receiving daily doses of risdiplam shortly after birth. The drug, approved by the Health Sciences Authority in 2021, works to slow the progression of SMA, and has allowed Faziq to reach some motor milestones, despite experiencing some muscle weakness. Currently, risdiplam costs approximately S$4,800 per month at Faziq’s dosage.
However, the financial strain is considerable. As Faziq grows, the required dosage—and cost—will increase to around S$12,000 monthly. To address this, Faziq’s paediatric neurologists have recommended a one-time gene therapy. This therapy aims to correct the underlying genetic defect causing SMA by replacing the missing gene.
While not a cure, gene therapy can halt the progression of the disease and substantially improve muscle function, enabling children with SMA to achieve developmental milestones. Doctors emphasize that the therapy is most effective when administered as early as possible—ideally within the first few months of life and before a child turns two—to prevent irreversible muscle damage.
The urgency underscores the critical need for early screening and diagnosis of SMA, offering families like Norhaziqah’s a chance at a future filled with more hope and fewer limitations.
